Investigating Genetic Status in Patients Presenting to Clinic

The causes of neurodegenerative dementias such as Frontotemporal Dementia, Lewy Body Disease and Alzheimer's disease are still largely unknown. While the contribution of some genetic mutations and polymorphisms is associated with autosomal dominant patterns of inheritance of these dementias, in many cases, the specific causative mutation in these families is not yet identified. Further, in many patients, polygenic risk is thought to give rise to pathophysiologic changes, but which specific genes affect risk are largely yet unknown. By examining genotypes in patients that present to our Cognitive Neurology and Alzheimer's Research Clinic with suspected or confirmed neurodegenerative dementia, or have a history of a familial dementia, we aim to help identify and characterize genetic mutations or polymorphisms that give rise to neurodegenerative diseases.

Study Overview

• Status: Recruiting
• Conditions: Lewy Body Dementia (LBD); Alzheimer Dementia (AD); Dementia, Frontotemporal
• Intervention / Treatment: Other: Biosample collection.

• Study Type: Observational
• Enrollment (Estimated): 1000

Contacts and Locations

• Study Contact: Name: Sarah Jesso; Phone Number: 519-646-6000; Email: cognitiveneurology@sjhc.london.on.ca

Study Locations

• Canada
  • Ontario
    • London, Ontario, Canada, N6C 0A7
      • Recruiting
      • Parkwood Institute
      • Contact: S Jesso, BA; Phone Number: 519-646-6000

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Persons presenting to the cognitive clinic with a neurodegenerative disorder (for example, AD, FTD, LBD, ALSP, and related conditions);

Biological family members of someone diagnosed with a neurodegenerative disorder, presenting to clinic;

Description

Inclusion Criteria:

• Persons presenting to the cognitive clinic with a neurodegenerative disorder (for example, AD, FTD, LBD, ALSP, and related conditions);
• Biological family members of someone diagnosed with a neurodegenerative disorder, presenting to clinic;
• Age 18+ years old;
• Consenting to a blood draw.

Exclusion Criteria:

• Persons declining / unwilling / not able to have a blood draw.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Blood draw for genetic status or polymorphism result.	The blood draw is taken at the time of the clinic visit. Up to 30ml will be collected by standard venipuncture.	A one-time visit, taking the participant approximately 20 minutes total for all study procedures.

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Demographic information.	Demographic information will be collected at the time of the clinic visit.	A one-time visit, taking the participant approximately 20 minutes total for all study procedures.
Medical history/Clinical diagnoses.	Will be obtained via chart review when available. This information is collected already as part of the patient's standard care.	Typically within 1 month of the clinic visit, taking approximately 5 minutes.
Pathological diagnoses.	Will be obtained via chart review when available. This information is collected already as part of the patient's standard care.	Typically within 1 month of the clinic visit, taking approximately 5 minutes.

Collaborators and Investigators

• Sponsor: London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's
• Investigators: Principal Investigator: Elizabeth Finger, MD, London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's

Study record dates

Study Major Dates

• Study Start (Actual): October 20, 2023
• Primary Completion (Estimated): August 1, 2038
• Study Completion (Estimated): August 1, 2043

Study Registration Dates

• First Submitted: June 12, 2023
• First Submitted That Met QC Criteria: June 12, 2023
• First Posted (Actual): June 22, 2023

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: March 3, 2025
• Last Verified: March 1, 2025

More Information

Terms related to this study

• Keywords: Neurodegenerative disorders
• Additional Relevant MeSH Terms: Synucleinopathies; Neurologic Manifestations; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Mental Disorders; Metabolic Diseases; Neurobehavioral Manifestations; Neurocognitive Disorders; Tauopathies; Neurodegenerative Diseases; Movement Disorders; Parkinsonian Disorders; Basal Ganglia Diseases; TDP-43 Proteinopathies; Proteostasis Deficiencies; Communication Disorders; Language Disorders; Aphasia; Speech Disorders; Frontotemporal Lobar Degeneration; Alzheimer Disease; Dementia; Frontotemporal Dementia; Aphasia, Primary Progressive; Pick Disease of the Brain; Lewy Body Disease
• Other Study ID Numbers: 121760

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No